A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594569



Internal ID16381978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68581133..68648408hg38UCSC Ensembl
Innerchr4:69446851..69514126hg19UCSC Ensembl
Innerchr4:69129446..69196721hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3867276
hg1967276
hg1867276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9111n54
Supporting Variantsnssv992751
Samples
Known GenesUGT2B15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594569
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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